Canonical Allele Identifier: CA918084568
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs773797937

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768439_99768442del , CM000669.2:g.99768439_99768442del GRCh38
NC_000007.13:g.99366062_99366065del , CM000669.1:g.99366062_99366065del GRCh37
NC_000007.12:g.99203998_99204001del NCBI36
NG_008421.1:g.20747_20750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.585_588del ENSP00000337915.3:p.Leu196ThrfsTer15
ENST00000651514.1:c.585_588del MANE Select ENSP00000498939.1:p.Leu196ThrfsTer15
ENST00000651783.1:c.126_129del ENSP00000498924.1:p.Leu43ThrfsTer15
ENST00000652018.1:c.438_441del ENSP00000498733.1:p.Leu147ThrfsTer15
ENST00000336411.6:c.585_588del ENSP00000337915.2:p.Leu196ThrfsTer15
ENST00000354593.6:c.135_138del ENSP00000346607.2:p.Leu46ThrfsTer15
NM_001202855.2:c.585_588del NP_001189784.1:p.Leu196ThrfsTer15
NM_017460.5:c.585_588del NP_059488.2:p.Leu196ThrfsTer15
XM_011515841.1:c.585_588del XP_011514143.1:p.Leu196ThrfsTer15
XM_011515842.1:c.585_588del XP_011514144.1:p.Leu196ThrfsTer15
NM_017460.6:c.585_588del MANE Select NP_059488.2:p.Leu196ThrfsTer15
NM_001202855.3:c.585_588del NP_001189784.1:p.Leu196ThrfsTer15